Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.

Clinical genetics - 1 Feb 2003

Mhatre A N, Weld E, Lalwani A K

Abstract excerpt

Mutations in GJB3, the gene encoding the gap junction protein Connexin 31 (CX31), have been pathogenically linked to erythrokeratodermia and non-syndromic autosomal dominant (DFNA2) or recessive hereditary hearing impairment (HHI). To determine the contribution of CX31 to sporadic deafness, we assessed 63 individuals with non-syndromic hearing impairment for CX31 mutations. Single coding exon of CX31 was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Chromatography, High Pressure Liquid
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hearing Loss, Bilateral

Share to Molecular Sequence Data

Share to Sequence Alignment

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 12630965
DOI: 10.1034/j.1399-0004.2003.00031.x

Genes

GJB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.PMID 12630965Read ↗

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.Semantic proximity Read ↗

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.Semantic proximity Read ↗

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).Semantic proximity Read ↗

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.Semantic proximity Read ↗

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.Semantic proximity Read ↗

Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.Semantic proximity Read ↗

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss.Semantic proximity Read ↗

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.Semantic proximity Read ↗

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.Semantic proximity Read ↗

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.Semantic proximity Read ↗

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Semantic proximity Read ↗

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.